While their paths crossed many times at Southern Methodist University, James Elder and Elizabeth Billipp didn’t officially meet until they were both living and working in New York City. Set-up through mutual friends, the two had an immediate connection. According to Elizabeth, it was a whirlwind romance and the two were married just a few years later.
A job opportunity moved the newly married couple back to Texas and then to Shreveport, Louisiana, where Elizabeth got pregnant with their first baby. Elizabeth had a normal, healthy pregnancy and in September 2010, Annabelle made her grand entrance.
The first several days of Annabelle’s life went as planned. She left the hospital with a great Apgar score and seemed to be eating and sleeping well. However, on day 10, Annabelle lost an entire feeding for the first time. After monitoring her for several days, Elizabeth visited her pediatrician who said it could be acid reflux.
Elizabeth strictly changed her diet, but it didn’t seem to cure Annabelle’s incessant vomiting. Elizabeth was at the pediatrician office every few days, hired a lactation consultant, and even bought an infant scale to daily track Annabelle’s weight. After weeks of hard work and little success to improve Annabelle’s ability to eat and keep the food down, Annabelle was admitted to the hospital for a nasogastric (NG) tube. It was during that visit that Annabelle was also diagnosed with hypotonia, or low muscle tone.
Thanks to the NG tube, Annabelle got back to her birth weight, but feeding was still a challenge and Annabelle plateaued.
The Elders continued to see their pediatrician regularly and during one visit were encouraged to visit a specialist in Houston for “peace of mind.” They made the appointment just before Christmas with Ian Butler, M.D., a pediatric neurologist affiliated with Children’s Memorial Hermann Hospital/UTHealth. At this point, Annabelle was three months old.
The first appointment with Dr. Butler was a basic consultation for medical history and to record Annabelle’s baseline. Three months later, when Annabelle was still unable to hold up her head, sit up, or hold a bottle, the Elders went back to Dr. Butler. He ordered an MRI, but it came back with no findings.
While still searching for an answer to Annabelle’s health problems, Elizabeth and James discovered they were pregnant with a second child. When Annabelle was just 14-months-old, her baby brother Blair was born healthy and happy. Soon after, the Elders moved to Houston for James’ job and to be closer to family. Plus, they realized they may need the Texas Medical Center. While they didn’t yet have a diagnosis, Annabelle started to show improvement with intense intervention, including physical and occupational therapy.
Unfortunately, the Elders’ relief didn’t last long. At Blair’s nine-month pediatrician appointment, they came to terms with the fact that he was experiencing many of the same symptoms that plagued his big sister, but to a lesser degree.
With doctors stumped, the family underwent full exome sequencing through Texas Children’s Hospital and Baylor College of Medicine. In a nutshell, the test mapped their entire genome and searched for genetic mutations. Results took several months, so they anxiously waited.
In the meantime, the Elders took the kids to see Dr. Esaias Baca, a Functional Medicine doctor. He ran labs and recommended they remove gluten and dairy from their diet, which they did. Subsequently, two days later, Annabelle kept all her food down for the first time in her life. Two weeks later, the results were back. The kids were deficient in Alpha Lipoic Acid and were placed on a high dose supplement.
In November 2013, the exome sequencing results were in and the Elder family finally had answers. Both Annabelle and Blair had an Auto somal Recessive genetic double mutation on the LIPT1 gene. Leigh syndrome was listed as a possible diagnosis, but their doctor at the time ruled it out.
Still hungry for information, Elizabeth and James revisited Dr. Butler. While he didn’t have any new neurologic suggestions, he referred them to his colleague Mary Kay Koenig,M.D., medical director of the UTHealth Mitochondrial Center of Excellence at Children’s Memorial Hermann Hospital, who was able to see the family within days.
After several hours of evaluation, reviewing case files, and examining both kids, Dr. Koenig confirmed the diagnosis as Leigh syndrome. Although Leigh syndrome is characterized as a fatal disease, Dr. Koenig gave the family hope. She encouraged the Elders to focus on the fact Annabelle and Blair (4 and 3 at the time of diagnosis) continue to positively progress. She also mentioned the possibility of doing IVF with genetic testing so they could have a third child without Leigh syndrome.
Annabelle and Blair, now 8 and 7 respectively, are currently enrolled in a clinical trial coordinated by Dr. Koenig and are seeing promising results. They still must work extremely hard and undergo medical intervention to maintain life functions that most of us take for granted, but they are thriving and teaching their little brother Clark (18 months) life’s most important lessons.
Annabelle and Blair and other children like them desperately need support as the medical community works to identify viable treatments and ultimately, a cure. To make a donation in honor of the Elder family, click here.